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Thrombophilia

Clinical Overview

Reviewed by Brian R. Robinson, MD

Thrombophilia is a condition characterized by the tendency for abnormal (excessive) blood clotting, sometimes also referred to as a "hypercoagulable state." It can be caused by hereditary factors or by medications and other circulatory conditions. In patients suffering from thrombophilia, blood clots far more easily than in healthy individuals, which places sufferers at risk for a number of clotting-related disorders. These include life-threatening conditions such as deep-vein thrombosis (blood clot in deep veins, typically in the legs), pulmonary thrombosis (blood clot in the lungs), and clots forming within the chambers of the heart, which can embolize, causing strokes or heart attack. There are also a number of potential complications during pregnancy. Treatment for the condition usually involves anticoagulant drug therapy.

Thrombophilia is the umbrella name for conditions in which a patient's blood has a higher-than-normal tendency to clot. Though there are other causes, thrombophilia is most often associated with one of two genetic mutations known as the Factor V Leiden (FVL) mutation (which may also be referred to as Activated Protein C Resistance) and prothrombin G20210A mutation. These mutations hamper patients' ability to break down small clots that occur naturally in the course of daily life.

There is research that suggests nutrition may play a role in exacerbating this condition in people with the above genetic mutations, or may increase the likelihood of independently occurring clotting disorders. Magnesium deficiency and low levels of vitamins B-6, B-12, and folic acid have all been linked to increased clotting activity in patients. Other medications, such as estrogen-containing birth-control pills or hormone supplements, also increase the risk of clotting. These hormonal medications are frequently the cause of abnormal thrombus formation in young women. Obesity has also been named as a factor in the cause of clotting disorders.

In pregnant women with thrombophilia, there is increased likelihood of preeclampsia, miscarriage, or stillbirth due to clotting in the placenta, umbilical cord, or fetus. These pregnancies are considered high-risk, and should be monitored closely. Doctors often choose to treat pregnant women with thrombophilia using preventative medication regimens, although certain medications, such as warfarin (Coumadin) are contraindicated during pregnancy. Therapy for thrombophilia during pregnancy might include heparin or aspirin.

Last updated: Jan-01-00

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